Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10512
Gene name Gene Name - the full gene name approved by the HGNC.
Semaphorin 3C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SEMA3C
Synonyms (NCBI Gene) Gene synonyms aliases
SEMAE, SemE
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q21.11
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, integrin and immunoglobulin-like domains, and a C-terminal basic domain. Homodimeriz
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs7779029 T>C Drug-response Intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016050 hsa-miR-374b-5p Sequencing 20371350
MIRT019941 hsa-miR-375 Microarray 20215506
MIRT027705 hsa-miR-98-5p Microarray 19088304
MIRT1334638 hsa-miR-1178 CLIP-seq
MIRT1334639 hsa-miR-1202 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001755 Process Neural crest cell migration IBA 21873635
GO:0001756 Process Somitogenesis IEA
GO:0001974 Process Blood vessel remodeling IEA
GO:0003148 Process Outflow tract septum morphogenesis ISS
GO:0003215 Process Cardiac right ventricle morphogenesis IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602645 10725 ENSG00000075223
Protein
UniProt ID Q99985
Protein name Semaphorin-3C (Semaphorin-E) (Sema E)
Protein function Binds to plexin family members and plays an important role in the regulation of developmental processes. Required for normal cardiovascular development during embryogenesis. Functions as attractant for growing axons, and thereby plays an importa
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01403 Sema 56 493 Sema domain Family
PF07679 I-set 579 661 Immunoglobulin I-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed intensely in the heart, skeletal muscle, colon, small intestine, ovary, testis, and prostate. Faint expression ubiquitously among other organs, including brain.
Sequence
Sequence length 751
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Axon guidance  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Hirschsprung disease Hirschsprung Disease, Hirschsprung disease rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323
View all (4 more)
25839327
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Persistent truncus arteriosus Truncus Arteriosus, Persistent rs267606914, rs1598737972, rs387906813 15548583
Unknown
Disease term Disease name Evidence References Source
Hypertension Hypertension GWAS
Glaucoma Glaucoma GWAS
Lung adenocarcinoma Lung adenocarcinoma Validation that loss of Tgfbr2 results in more aggressive and T cell-excluded KP lung tumors GWAS, CBGDA
Mental Depression Mental Depression GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35437508
Atrophy Associate 26993346
Autism Spectrum Disorder Associate 23879678
Barrett Esophagus Associate 35654816
Breast Neoplasms Associate 19915008, 37443749
Burkitt Lymphoma Associate 29033373
Carcinogenesis Associate 12598331, 26032848
Carcinoma Pancreatic Ductal Associate 31926587, 34691034
COVID 19 Associate 38203569
Dyslexia Associate 34076780